Seizures | - Seizures, which may include tonic seizures, epileptic spasms, generalized tonic-clonic seizures, and/or focal seizures
- Hyperkinetic-tonic-spasms sequence seizures are characteristic but not seen in all cases
| - Absence of epileptic spasms in the first year of life
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EEG | | - Normal EEG background without interictal discharges after 4 months of age
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Development at onset | | - Normal development prior to seizure onset
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Other testing (eg, genetics) | - Pathogenic variant in the CDKL5 gene (X-linked but females outnumber males by 4:1)
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Is MRI or ictal EEG required for diagnosis? - An MRI is not required for diagnosis but is strongly recommended to exclude other causes
- An ictal EEG is not required for diagnosis
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